ENU-induced A to T transversion at base pair 71,685,383 (v38) on chromosome 8, or base pair 9,001 in the GenBank genomic region NC_000074. The mutation is located within the acceptor splice site of intron 18 (in both protein-coding transcripts on Ensembl; both transcripts encode the same protein), two nucleotides from exon 20. The effect of the mutation at the mRNA and protein level is unknown. One possibility is that aberrant splicing would cause skipping of the 190-base pair exon 19 (out of 25 total exons) and a frame-shift that would result in coding of 7 aberrant amino acids followed by a premature stop codon in exon 20. (J:225935)
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基础信息

模型ID
品系来源
等位基因类型
突变
遗传方式
相关基因
相关疾病
参考文献
C57BL/6J
Chemically induced
Single point
Recessive
1
3
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标签摘要:
hm: 纯合子
ht: 杂合子
cn: 条件基因型
cx: 复合型:涉及多基因组
tg: 转基因
ot: 其他:半合子、不确定...
(F): 雌性
(M): 雄性
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N: 正常表型
(#): 上标括号内为相关疾病数量
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